Canonical Allele Identifier: CA764595115

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1211377894
• gnomAD v3: 2-214932338-A-AATT
• gnomAD v4: 2-214932338-A-AATT
• MyVariant Identifiers: chr2:g.215797062_215797063insATT (hg19) ; chr2:g.214932338_214932339insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932340_214932342dup , CM000664.2:g.214932340_214932342dup	GRCh38
NC_000002.11:g.215797064_215797066dup , CM000664.1:g.215797064_215797066dup	GRCh37
NC_000002.10:g.215505309_215505311dup	NCBI36
NG_007074.1:g.211087_211089dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*293_*295dup (ABCA12) MANE Select	ENSP00000272895.7:n.*293_*295dup
ENST00000272895.11:c.*293_*295dup (ABCA12)	ENSP00000272895.7:n.*293_*295dup
NM_015657.3:c.*293_*295dup (ABCA12)	NP_056472.2:n.*293_*295dup
NM_173076.2:c.*293_*295dup (ABCA12)	NP_775099.2:n.*293_*295dup
NR_103740.1:n.8381_8383dup (ABCA12)
NR_110292.1:n.322-15485_322-15483dup (SNHG31)
XM_011510951.1:c.*293_*295dup (ABCA12)	XP_011509253.1:n.*293_*295dup
XM_011510951.2:c.*293_*295dup (ABCA12)	XP_011509253.1:n.*293_*295dup
NM_173076.3:c.*293_*295dup (ABCA12) MANE Select	NP_775099.2:n.*293_*295dup
NR_103740.2:n.8579_8581dup (ABCA12)
NM_015657.4:c.*293_*295dup (ABCA12)	NP_056472.2:n.*293_*295dup